ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4048= (p.Lys1350=)

dbSNP: rs4826245
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078036 SCV000109874 benign not specified 2016-02-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078036 SCV000246728 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311547 SCV000846063 benign Inborn genetic diseases 2015-06-22 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001514284 SCV001722090 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000990884 SCV001775413 benign Menkes kinky-hair syndrome 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554196 SCV001775414 benign Cutis laxa, X-linked 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554197 SCV001775415 benign X-linked distal spinal muscular atrophy type 3 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001610349 SCV001836310 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000078036 SCV001741201 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000078036 SCV001807910 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000078036 SCV001925575 benign not specified no assertion criteria provided clinical testing

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